ClinVar Miner

Submissions for variant NM_001218.5(CA12):c.363C>A (p.His121Gln)

dbSNP: rs775067652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Garry R Cutting Laboratory, Johns Hopkins University RCV000235472 SCV000255964 pathogenic Isolated hyperchlorhidrosis 2015-10-20 criteria provided, single submitter research
OMIM RCV000235472 SCV000803753 pathogenic Isolated hyperchlorhidrosis 2018-08-27 no assertion criteria provided literature only

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