ClinVar Miner

Submissions for variant NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly)

gnomAD frequency: 0.00001  dbSNP: rs1308445013
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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 RCV001336747 SCV001530219 uncertain significance Autosomal dominant nonsyndromic hearing loss 68 2018-04-11 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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