ClinVar Miner

Submissions for variant NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn)

gnomAD frequency: 0.00001  dbSNP: rs777582527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991221 SCV001142601 uncertain significance CHRNA3-related disorder 2019-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012419 SCV005633148 uncertain significance Urinary bladder, atony of; SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 2024-02-16 criteria provided, single submitter clinical testing

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