ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys)

gnomAD frequency: 0.00047  dbSNP: rs141935585
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870735 SCV001012270 benign Hajdu-Cheney syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001711394 SCV001945864 benign not provided 2020-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711394 SCV004700355 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing NOTCH2: BS1
Breakthrough Genomics, Breakthrough Genomics RCV001711394 SCV005283325 benign not provided criteria provided, single submitter not provided
ITMI RCV000121718 SCV000085916 not provided not specified 2013-09-19 no assertion provided reference population

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