ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp)

gnomAD frequency: 0.00004  dbSNP: rs762164861
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663841 SCV001879584 likely benign not specified 2021-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859430 SCV002204053 benign not provided 2022-08-16 criteria provided, single submitter clinical testing

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