ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) (rs77959215)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594510 SCV000705396 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766029 SCV000897467 uncertain significance Primary autosomal recessive microcephaly 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000594510 SCV001043968 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000766029 SCV001321854 likely benign Primary autosomal recessive microcephaly 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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