ClinVar Miner

Submissions for variant NM_001352005.2(NTM):c.937G>A (p.Val313Met)

gnomAD frequency: 0.00170  dbSNP: rs201653643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680600 SCV000808028 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000963099 SCV001110232 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000963099 SCV005211327 likely benign not provided criteria provided, single submitter not provided

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