ClinVar Miner

Submissions for variant NM_031313.3(ALPG):c.516T>C (p.His172=)

gnomAD frequency: 0.00564  dbSNP: rs113898433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963115 SCV001110248 benign not provided 2017-06-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963115 SCV004810889 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing ALPG: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963115 SCV005244048 benign not provided criteria provided, single submitter not provided

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