ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile)

gnomAD frequency: 0.00017  dbSNP: rs200898204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329073 SCV001520387 uncertain significance Hearing loss, autosomal recessive 112 2019-06-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001329073 SCV002812082 uncertain significance Hearing loss, autosomal recessive 112 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546301 SCV003666649 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.2804G>T (p.R935I) alteration is located in exon 17 (coding exon 17) of the BDP1 gene. This alteration results from a G to T substitution at nucleotide position 2804, causing the arginine (R) at amino acid position 935 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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