ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)

dbSNP: rs1437625274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673400 SCV000798598 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-03-20 criteria provided, single submitter clinical testing
GeneDx RCV002464287 SCV002759178 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21436283, 10930322)

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