ClinVar Miner

Submissions for variant NM_001261428.3(LPIN1):c.45G>A (p.Ser15=)

gnomAD frequency: 0.00576  dbSNP: rs145228255
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536772 SCV001753579 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495865 SCV002799079 likely benign Myoglobinuria, acute recurrent, autosomal recessive 2021-07-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002495865 SCV004563132 likely benign Myoglobinuria, acute recurrent, autosomal recessive 2023-10-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536772 SCV005260621 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921196 SCV004730938 benign LPIN1-related disorder 2019-06-06 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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