ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.477A>T (p.Ser159=) (rs41313948)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146327 SCV000193593 uncertain significance Primary autosomal recessive microcephaly 1 2013-02-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179528 SCV000231788 likely benign not specified 2015-04-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000146327 SCV000474597 uncertain significance Primary autosomal recessive microcephaly 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000179528 SCV000513551 benign not specified 2015-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000949942 SCV001096218 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000949942 SCV001144488 benign not provided 2019-03-28 criteria provided, single submitter clinical testing

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