ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) (rs200532919)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724197 SCV000227446 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223359 SCV000272087 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing p.Val485Ala in exon 2 of MYO15A: This variant is is not expected to have clinica l significance because it has been identified in 0.6% (61/10108) Ashkenazi Jewis h chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs200532919).
GeneDx RCV000724197 SCV000721572 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27375115, 31898538, 26445815, 30245029, 30755392)
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735396 SCV000854551 likely benign Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate criteria provided, single submitter clinical testing
Invitae RCV000724197 SCV001054468 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001122571 SCV001281297 uncertain significance Deafness, autosomal recessive 3 2017-08-01 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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