ClinVar Miner

Submissions for variant NM_001305581.2(LRMDA):c.132-253012del

gnomAD frequency: 0.01042  dbSNP: rs146123023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252139 SCV000314820 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724207 SCV000331692 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724207 SCV001112999 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724207 SCV004126834 benign not provided 2022-11-01 criteria provided, single submitter clinical testing LRMDA: BS1, BS2

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