ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.231G>A (p.Gly77=)

dbSNP: rs1555631396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615182 SCV000716188 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170382 SCV001332959 likely benign Cardiomyopathy 2019-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056275 SCV005715220 likely benign Amyloidosis, hereditary systemic 1 2024-04-09 criteria provided, single submitter clinical testing

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