ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp)

gnomAD frequency: 0.00070  dbSNP: rs888391580
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871689 SCV001013382 likely benign not provided 2021-10-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000871689 SCV001143382 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000871689 SCV001474323 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing

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