ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)

gnomAD frequency: 0.00404  dbSNP: rs41548013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714859 SCV000845602 uncertain significance X-linked reticulate pigmentary disorder 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000894499 SCV001038485 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Mendelics RCV002249436 SCV002518988 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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