ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)

gnomAD frequency: 0.00211  dbSNP: rs77570029
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249394 SCV000306316 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249394 SCV000332423 benign not specified 2015-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952070 SCV001098537 benign Joubert syndrome 14 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001557671 SCV001779476 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001557671 SCV005255999 likely benign not provided criteria provided, single submitter not provided

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