ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=)

gnomAD frequency: 0.00006  dbSNP: rs370927186
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
Athena Diagnostics RCV001288540 SCV001475719 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537974 SCV003515146 likely benign not provided 2021-12-23 criteria provided, single submitter clinical testing

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