ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)

gnomAD frequency: 0.00005  dbSNP: rs372135575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732310 SCV000860245 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV001868975 SCV002193094 likely benign Spastic paraplegia 2023-03-18 criteria provided, single submitter clinical testing

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