ClinVar Miner

Submissions for variant NM_001349206.2(LPIN1):c.2595G>A (p.Gln865=)

gnomAD frequency: 0.00221  dbSNP: rs139089077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000958557 SCV000732377 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000958557 SCV001105414 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494773 SCV002797990 likely benign Myoglobinuria, acute recurrent, autosomal recessive 2021-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958557 SCV005260641 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891988 SCV000316104 benign LPIN1-related disorder 2019-12-31 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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