ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.456C>T (p.Ile152=)

gnomAD frequency: 0.00005  dbSNP: rs747594885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725851 SCV000339939 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000725851 SCV000718675 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088042 SCV001009802 likely benign X-linked myopathy with postural muscle atrophy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321959 SCV002628971 likely benign Cardiovascular phenotype 2020-09-30 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.

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