ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.513T>C (p.Asp171=)

gnomAD frequency: 0.00001  dbSNP: rs794727785
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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) RCV000179373 SCV000231611 uncertain significance not provided 2014-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179373 SCV002342124 likely benign not provided 2021-12-02 criteria provided, single submitter clinical testing

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