ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1026G>A (p.Val342=)

dbSNP: rs1232642116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658799 SCV000780594 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855383 SCV002283945 likely benign Majeed syndrome 2023-10-13 criteria provided, single submitter clinical testing

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