ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)

gnomAD frequency: 0.00001  dbSNP: rs766644919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219827 SCV001391785 benign Adams-Oliver syndrome 5 2023-10-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845088 SCV000986938 not provided Aortic valve disease 1; Adams-Oliver syndrome 5 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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