ClinVar Miner

Submissions for variant NM_022915.5(MRPL44):c.827+18C>T

gnomAD frequency: 0.01453  dbSNP: rs58911111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126803 SCV000170326 benign not specified 2014-02-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512468 SCV001719895 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492478 SCV002795116 likely benign Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512468 SCV005242711 benign not provided criteria provided, single submitter not provided

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