ClinVar Miner

Submissions for variant NM_002246.3(KCNK3):c.510G>A (p.Thr170=)

gnomAD frequency: 0.00001  dbSNP: rs748629731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402904 SCV001604764 likely benign Pulmonary hypertension, primary, 4 2023-04-24 criteria provided, single submitter clinical testing

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