ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.40C>T (p.Leu14=)

gnomAD frequency: 0.00001  dbSNP: rs1347695561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449123 SCV001652228 likely benign Amyloidosis, hereditary systemic 1 2022-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001539583 SCV001757371 benign not provided 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476766 SCV002802555 likely benign Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 2022-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681183 SCV005180177 likely benign Cardiovascular phenotype 2024-03-17 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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