ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.387C>A (p.Ala129=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002366290 SCV002623812 likely benign Cardiovascular phenotype 2019-05-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003514558 SCV004304595 likely benign Amyloidosis, hereditary systemic 1 2024-05-21 criteria provided, single submitter clinical testing

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