ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)

gnomAD frequency: 0.00004  dbSNP: rs200091201
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000054603 SCV001123763 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054603 SCV000077293 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.
Natera, Inc. RCV001276378 SCV001462620 likely benign Familial hypokalemia-hypomagnesemia 2020-09-16 no assertion criteria provided clinical testing

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