ClinVar Miner

Submissions for variant NM_001375978.1(CHRM3):c.681T>C (p.Ser227=)

gnomAD frequency: 0.00012  dbSNP: rs199549014
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 RCV000955282 SCV001101980 likely benign not provided 2023-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489325 SCV002796287 likely benign Prune belly syndrome 2022-02-02 criteria provided, single submitter clinical testing

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