ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)

gnomAD frequency: 0.00477  dbSNP: rs61752484
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121722 SCV000228166 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532049 SCV000636900 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001573312 SCV001840943 benign not provided 2020-07-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31555317, 16773578, 27058611, 23597238, 29221435)
Breakthrough Genomics, Breakthrough Genomics RCV001573312 SCV005283299 benign not provided criteria provided, single submitter not provided
ITMI RCV000121722 SCV000085920 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573312 SCV001798999 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121722 SCV001926777 benign not specified no assertion criteria provided clinical testing

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