ClinVar Miner

Submissions for variant NM_001278669.2(NFATC1):c.636C>G (p.Pro212=)

gnomAD frequency: 0.00009  dbSNP: rs577582640
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 RCV000925366 SCV001070901 benign not provided 2018-05-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000925366 SCV004138925 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NFATC1: BP4, BP7

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