ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)

dbSNP: rs547323858
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000578048 SCV000679833 uncertain significance Familial atrial fibrillation 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578098 SCV000679834 uncertain significance Brugada syndrome 9 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577985 SCV000679835 uncertain significance Spinocerebellar ataxia type 19/22 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578042 SCV000679836 uncertain significance Dilated cardiomyopathy 1JJ 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578116 SCV000679837 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000951026 SCV001097378 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159972 SCV003858563 likely benign Cardiovascular phenotype 2023-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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