ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1908C>T (p.Ser636=)

gnomAD frequency: 0.00003  dbSNP: rs80356814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408562 SCV002722035 likely benign Cardiovascular phenotype 2022-08-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV003531949 SCV004359138 likely benign Cardiomyopathy 2023-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003743557 SCV004549749 likely benign Charcot-Marie-Tooth disease type 2 2024-01-23 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057372 SCV000088485 not provided not provided no assertion provided not provided

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