ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)

gnomAD frequency: 0.00216  dbSNP: rs140639805
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174612 SCV000225934 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000889995 SCV001033716 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000988312 SCV001137980 benign Autosomal recessive hypophosphatemic bone disease 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000988312 SCV003800481 likely benign Autosomal recessive hypophosphatemic bone disease 2022-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000889995 SCV004164027 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SLC34A3: BS2
PreventionGenetics, part of Exact Sciences RCV003955027 SCV004771998 likely benign SLC34A3-related condition 2020-05-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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