ClinVar Miner

Submissions for variant NM_001352005.2(NTM):c.1004C>T (p.Ser335Leu)

gnomAD frequency: 0.00113  dbSNP: rs139579932
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680601 SCV000808029 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705772 SCV005211328 likely benign not provided criteria provided, single submitter not provided

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