ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60+62C>T (rs1522296)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000709703 SCV001250539 benign Phenylketonuria 2019-11-08 reviewed by expert panel curation The c.60+62C>T intronic variant in PAH has a MAF of 0.3441 in gnomAD with 2,014 homozygotes.In summary, this variant meets criteria to be classified as benign for PAH. PAH-specific ACMG/AMP criteria applied: BA1, BS2, BP7.
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital RCV000709703 SCV000839874 likely pathogenic Phenylketonuria 2018-06-26 no assertion criteria provided case-control
Reproductive Health Research and Development,BGI Genomics RCV000709703 SCV001142436 benign Phenylketonuria 2020-01-06 no assertion criteria provided curation NG_008690.2(NM_000277.2):c.60+62C>T in the gene PAH has an allele frequency of 0.496 in African subpopulation in the gnomAD database. A total of 2014 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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