ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.871G>T (p.Ala291Ser)

gnomAD frequency: 0.00007  dbSNP: rs202097537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939308 SCV001085150 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333247 SCV001525777 uncertain significance Autosomal recessive nonsyndromic hearing loss 102 2018-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003942952 SCV004757315 likely benign EPS8-related disorder 2023-02-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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