ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.156G>A (p.Leu52=)

gnomAD frequency: 0.00028  dbSNP: rs142493907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730371 SCV000858101 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730371 SCV001016947 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276352 SCV001462528 likely benign Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2020-09-16 no assertion criteria provided clinical testing

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