ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) (rs374576916)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155239 SCV000204925 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing p.Ser1786Thr in exon 39 of MYO7A: This variant is not expected to have clinical significance because it was identified by our laboratory in several unaffected i ndividuals from one Saudi Arabian family who were homozygous for the variant or compound heterozygous with another pathogenic variant in MYO7A. This variant has also been identified in 12/116102 of European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs374576916).

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