ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1936-23G>A

gnomAD frequency: 0.52888  dbSNP: rs2276283
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242972 SCV000303289 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829504 SCV000971234 benign not provided 2018-06-13 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.
Genome-Nilou Lab RCV001533301 SCV001749138 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533302 SCV001749139 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533328 SCV001749183 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829504 SCV005236284 benign not provided criteria provided, single submitter not provided

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