ClinVar Miner

Submissions for variant NM_025257.3(SLC44A4):c.938-11G>A

gnomAD frequency: 0.59820  dbSNP: rs644774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671018 SCV001884132 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810206 SCV002057126 benign Hearing loss, autosomal dominant 72 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001671018 SCV002458074 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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