ClinVar Miner

Submissions for variant NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)

gnomAD frequency: 0.00217  dbSNP: rs147768808
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242613 SCV000314818 likely benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625427 SCV000745337 likely benign Oculocutaneous albinism type 7 2017-06-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732831 SCV000860823 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732831 SCV001110624 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732831 SCV004033053 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing LRMDA: BP4, BS2
Clinical Genetics, Academic Medical Center RCV000242613 SCV001918827 benign not specified no assertion criteria provided clinical testing

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