ClinVar Miner

Submissions for variant NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)

dbSNP: rs3958533
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
Invitae RCV000949482 SCV001095738 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000986814 SCV001135950 likely benign Hypogonadotropic hypogonadism 7 with or without anosmia 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001391312 SCV001593191 benign Hypogonadotropic hypogonadism 15 with or without anosmia criteria provided, single submitter clinical testing

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