ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.615C>T (p.Pro205=)

gnomAD frequency: 0.00002  dbSNP: rs771572751
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871371 SCV001013018 likely benign Brown-Vialetto-van Laere syndrome 1 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432828 SCV004149748 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SLC52A3: BP4, BP7

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