ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1125G>A (p.Val375=)

gnomAD frequency: 0.00010  dbSNP: rs143246852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000278066 SCV000339117 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642122 SCV000763775 likely benign Lethal multiple pterygium syndrome 2024-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000278066 SCV002064018 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing

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