ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys)

gnomAD frequency: 0.00038  dbSNP: rs757776621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942075 SCV001087989 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826995 SCV002089355 likely benign Familial hypokalemia-hypomagnesemia 2020-07-29 no assertion criteria provided clinical testing

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