Submissions for variant NM_000338.3(SLC12A1):c.1118G>A (p.Arg373His)

gnomAD frequency: 0.00046  dbSNP: rs150258541

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001339238	SCV001532968	likely benign	not provided	2024-12-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002547384	SCV003676355	uncertain significance	Inborn genetic diseases	2022-01-10	criteria provided, single submitter	clinical testing	The c.1118G>A (p.R373H) alteration is located in exon 9 (coding exon 8) of the SLC12A1 gene. This alteration results from a G to A substitution at nucleotide position 1118, causing the arginine (R) at amino acid position 373 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV001339238	SCV005092086	uncertain significance	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLC12A1: PM2
Breakthrough Genomics, Breakthrough Genomics	RCV001339238	SCV005193787	uncertain significance	not provided		criteria provided, single submitter	not provided
Fulgent Genetics, Fulgent Genetics	RCV005005186	SCV005630701	likely benign	Bartter disease type 1	2024-01-31	criteria provided, single submitter	clinical testing