ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala)

gnomAD frequency: 0.00002  dbSNP: rs774773452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336655 SCV001530094 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2018-11-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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