ClinVar Miner

Submissions for variant NM_001555.5(IGSF1):c.1347A>G (p.Glu449=)

gnomAD frequency: 0.48301  dbSNP: rs1128617
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251275 SCV000306929 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618410 SCV001845506 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000606574 SCV001977171 benign X-linked central congenital hypothyroidism with late-onset testicular enlargement 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618410 SCV005279511 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606574 SCV000734741 benign X-linked central congenital hypothyroidism with late-onset testicular enlargement no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000251275 SCV001921516 benign not specified no assertion criteria provided clinical testing

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