Submissions for variant NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg)

gnomAD frequency: 0.00009  dbSNP: rs770836890

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766930	SCV000571873	uncertain significance	not provided	2016-10-20	criteria provided, single submitter	clinical testing	The c.2062_2063insTTC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a benign variant in these populations. The c.2062_2063insTTC variant results in the replacement of a Glycine residue with a Valine residue, and the insertion of a single Arginine residue, denoted p.Gly688delinsValR. In-silico analysis predicts this variant does not affect gene splicing.
Athena Diagnostics	RCV000478548	SCV000612775	uncertain significance	not specified	2017-06-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063798	SCV002471257	likely benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2024-01-09	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000766930	SCV003830756	uncertain significance	not provided	2022-12-22	criteria provided, single submitter	clinical testing