ClinVar Miner

Submissions for variant NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala)

gnomAD frequency: 0.28790  dbSNP: rs2224391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443713 SCV000517708 benign not specified 2016-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001775791 SCV002014070 benign Combined oxidative phosphorylation deficiency 19 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676850 SCV002401130 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676850 SCV000802661 benign not provided 2016-02-20 no assertion criteria provided clinical testing

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