ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1175-13G>A

gnomAD frequency: 0.00002  dbSNP: rs548223568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808264 SCV002058904 uncertain significance Fanconi renotubular syndrome 2 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000205, PM2_M). In silico prediction tools predicted that this variant influenced pre-mRNA splicing, resulting in aberrant splicing (SPLICEAI: 0.87>=0.8, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Invitae RCV002074226 SCV002467384 likely benign not provided 2023-04-12 criteria provided, single submitter clinical testing

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