ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5574+19C>A

gnomAD frequency: 0.00003  dbSNP: rs561150244
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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) RCV000358083 SCV000332987 uncertain significance not provided 2015-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059094 SCV002324764 likely benign Achondrogenesis, type IA 2023-09-05 criteria provided, single submitter clinical testing

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