ClinVar Miner

Submissions for variant NM_025257.3(SLC44A4):c.976A>G (p.Met326Val)

gnomAD frequency: 0.59842  dbSNP: rs644827
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616767 SCV001842201 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810136 SCV002057115 benign Hearing loss, autosomal dominant 72 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001616767 SCV002331838 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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