ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)

gnomAD frequency: 0.00048  dbSNP: rs141106709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517087 SCV000615282 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000904168 SCV001048672 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506260 SCV002804735 likely benign Bartter disease type 1 2021-11-19 criteria provided, single submitter clinical testing

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