ClinVar Miner

Submissions for variant NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)

gnomAD frequency: 0.00053  dbSNP: rs147874855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663420 SCV001879757 likely benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073088 SCV002406994 benign not provided 2024-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477883 SCV002799029 likely benign Hearing loss, autosomal recessive 99 2021-07-03 criteria provided, single submitter clinical testing

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