ClinVar Miner

Submissions for variant NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)

gnomAD frequency: 0.00323  dbSNP: rs139341268
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174778 SCV000226145 benign not specified 2015-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000886086 SCV000730736 likely benign not provided 2020-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886086 SCV001029570 benign not provided 2024-09-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174778 SCV002065524 likely benign not specified 2017-12-05 criteria provided, single submitter clinical testing

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