ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1179T>C (p.Pro393=)

dbSNP: rs1651603737
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ClinVar version:
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 RCV002262250 SCV002544320 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing LMNA: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005058195 SCV005716742 likely benign Charcot-Marie-Tooth disease type 2 2024-02-18 criteria provided, single submitter clinical testing

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