ClinVar Miner

Submissions for variant NM_014489.4(PGAP2):c.737G>T (p.Arg246Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494560 SCV004244358 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3 2024-01-23 criteria provided, single submitter clinical testing Criteria applied: PP4_STR, PM3, PM2_SUP; Identified as compund heterozygous with NM_014489.4:c.146C>T

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