ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=)

gnomAD frequency: 0.00006  dbSNP: rs769454994
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
Invitae RCV000953980 SCV001100581 likely benign not provided 2022-07-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000953980 SCV001143407 benign not provided 2018-11-26 criteria provided, single submitter clinical testing

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