ClinVar Miner

Submissions for variant NM_002246.3(KCNK3):c.978C>G (p.Pro326=)

gnomAD frequency: 0.00001  dbSNP: rs747301305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002099139 SCV002433860 likely benign Pulmonary hypertension, primary, 4 2023-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711836 SCV005263210 likely benign not provided criteria provided, single submitter not provided

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