ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala)

gnomAD frequency: 0.00002  dbSNP: rs769258408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254150 SCV000318628 uncertain significance Cardiovascular phenotype 2013-05-03 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.

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