ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)

gnomAD frequency: 0.00051  dbSNP: rs202209156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251670 SCV000305498 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000551038 SCV000641736 likely benign Lethal multiple pterygium syndrome 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001711662 SCV000723994 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28518170)
Revvity Omics, Revvity Omics RCV001711662 SCV003832132 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001711662 SCV004226022 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing

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