ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4086T>C (p.Ala1362=)

gnomAD frequency: 0.00003  dbSNP: rs1297537098
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000914222 SCV001059388 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000914222 SCV005209583 likely benign not provided criteria provided, single submitter not provided

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