ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2599+12G>C

gnomAD frequency: 0.01309  dbSNP: rs74117573
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249731 SCV000314291 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001589273 SCV001822502 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Invitae RCV002058329 SCV002464550 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing

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